No paralogue variants have been mapped to residue 388 for RYR1.
RYR1 | YAAPDPKALRLGVLKKKAMLHQEGHMDDAL>S<LTRCQQEESQAARMIHSTNGLYNQFIKSLD | 418 |
RYR2 | YQSVDVKSVRMGSIQRKAIMHHEGHMDDGI>S<LSRSQHEESRTARVIRSTVFLFNRFIRGLD | 434 |
RYR3 | YKAQDAKTSRLGPLKRKVILHQEGHMDDGL>T<LQRCQREESQAARIIRNTTALFSQFVSGN- | 425 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S388L | c.1163C>T | Putative Benign | SIFT: Polyphen: |